ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8796C>T (p.His2932=)

dbSNP: rs1225836672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190808 SCV001358392 likely benign Hereditary cancer-predisposing syndrome 2019-07-08 criteria provided, single submitter clinical testing
Invitae RCV001419032 SCV001621277 likely benign Hereditary breast ovarian cancer syndrome 2019-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190808 SCV004005414 likely benign Hereditary cancer-predisposing syndrome 2023-04-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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